A6T (p.Ala6Thr) variant of POT1 (Q9NUX5)
A6T (p.Ala6Thr) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- NCI-TCGA Cosmic COSV6292
- Uncertain significance
- Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- CADD 41.00
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available